Details for: GABRD

Gene ID: 2563

Symbol: GABRD

Ensembl ID: ENSG00000187730

Description: gamma-aminobutyric acid type A receptor subunit delta

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.7
    Marker Score: 2159
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1997
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1172
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.56
    Marker Score: 6464
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 857
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.24
    Marker Score: 45578
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 487
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4818
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.13
    Marker Score: 1739
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251814
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1
    Marker Score: 14998
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71832
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48056
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5353
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.92
    Marker Score: 331
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.92
    Marker Score: 420
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.91
    Marker Score: 420.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.86
    Marker Score: 660
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.77
    Marker Score: 1571
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.72
    Marker Score: 44299
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.65
    Marker Score: 378
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.59
    Marker Score: 5642
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.59
    Marker Score: 5061
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 467
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.58
    Marker Score: 1097
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.52
    Marker Score: 515
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.48
    Marker Score: 1364
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.46
    Marker Score: 7204
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.43
    Marker Score: 885.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.41
    Marker Score: 3869
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.41
    Marker Score: 195
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.36
    Marker Score: 241
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.36
    Marker Score: 347
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.36
    Marker Score: 102
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.35
    Marker Score: 704
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.34
    Marker Score: 185
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.32
    Marker Score: 2476
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.31
    Marker Score: 294
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.31
    Marker Score: 312
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.29
    Marker Score: 305
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.27
    Marker Score: 1094
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.27
    Marker Score: 384
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.26
    Marker Score: 5255
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.26
    Marker Score: 77
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.25
    Marker Score: 167
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.24
    Marker Score: 69
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.24
    Marker Score: 69
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.24
    Marker Score: 142
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.22
    Marker Score: 127
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.22
    Marker Score: 366
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.2
    Marker Score: 351
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.19
    Marker Score: 164
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.18
    Marker Score: 76
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.18
    Marker Score: 48
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.17
    Marker Score: 639
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.16
    Marker Score: 179
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.16
    Marker Score: 200
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.15
    Marker Score: 81
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.15
    Marker Score: 55
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.15
    Marker Score: 47
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.15
    Marker Score: 140
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.14
    Marker Score: 63
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.14
    Marker Score: 574
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.14
    Marker Score: 5169
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.14
    Marker Score: 79
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.13
    Marker Score: 35
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.13
    Marker Score: 229
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.13
    Marker Score: 66
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.13
    Marker Score: 124
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.12
    Marker Score: 39
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.12
    Marker Score: 28
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.12
    Marker Score: 70
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.11
    Marker Score: 335
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.11
    Marker Score: 51
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.11
    Marker Score: 76
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.11
    Marker Score: 116
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.11
    Marker Score: 96
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1
    Marker Score: 124
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.1
    Marker Score: 69
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.1
    Marker Score: 111
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.1
    Marker Score: 52

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Other Information

**Key characteristics:** - The GABRD gene is located on chromosome 19p13.1. - It is a single-exon gene that encodes a protein of 333 amino acids. - The protein is a member of the gamma-aminobutyric acid receptor superfamily. - It is expressed in high levels in the central nervous system, particularly in the brain and spinal cord. **Pathways and functions:** - The GABRD gene is involved in a variety of cellular processes, including axon, chemical synaptic transmission, chloride channel activity, chloride transmembrane transport, gaba-a receptor activity, gamma-aminobutyric acid signaling pathway, nervous system process, neurotransmitter receptor activity, and plasma membrane. - It is involved in regulating the postsynaptic membrane potential by controlling the opening and closing of chloride channels. - It is also involved in regulating the excitability of neurons by controlling the activity of gamma-aminobutyric acid receptors. **Clinical significance:** - Mutations in the GABRD gene have been linked to a number of neurological disorders, including autism, schizophrenia, and epilepsy. - These disorders are characterized by abnormal brain development and function. - Targeting the GABRD gene is a promising therapeutic strategy for these disorders.

Genular Protein ID: 3598620002

Symbol: GBRD_HUMAN

Name: Gamma-aminobutyric acid receptor subunit delta

UniProtKB Accession Codes:

O14764 Q8N4N9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ComplexPortal 4 DNASU 1 DisGeNET 1 DrugBank 75 DrugCentral 1 EMBL 3 EMDB 7 Ensembl 1 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 7 PRINTS 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15115768

Title: GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

PubMed ID: 15115768

DOI: 10.1093/hmg/ddh146

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 27932480

Title: MAGI2 mutations cause congenital nephrotic syndrome.

PubMed ID: 27932480

DOI: 10.1681/asn.2016040387

Sequence Information:

  • Length: 452
  • Mass: 50708
  • Checksum: 682501DE93144CE4
  • Sequence:
    • MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG YARNFRPGIG 
GPPVNVALAL EVASIDHISE ANMEYTMTVF LHQSWRDSRL SYNHTNETLG LDSRFVDKLW 
LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG VILYSIRITS TVACDMDLAK YPMDEQECML 
DLESYGYSSE DIVYYWSESQ EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH 
FHLRRNRGVY IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS 
LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP RAEMDVRNAI 
VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE TKKEGAARSG GQGGIRARLR 
PIDADTIDIY ARAVFPAAFA AVNVIYWAAY AM

Genular Protein ID: 2066231159

Symbol: A8K496_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K496

Database IDs:

ARBA 17 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 5 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 9 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 3 PROSITE 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 1 RuleBase 1 SUPFAM 2

Sequence Information:

  • Length: 452
  • Mass: 50692
  • Checksum: 0F09059FDC790FC9
  • Sequence:
    • MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG YARNFRPGIG 
GPPVNVALAP EVASIDHISE ANMEYTMTVF LHQSWRDSRL SYNHTNETLG LDSRFVDKLW 
LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG VILYSIRITS TVACDMDLAK YPMDEQECML 
DLESYGYSSE DIVYYWSESQ EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH 
FHLRRNRGVY IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS 
LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP RAEMDVRNAI 
VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE TKKEGAARSG GQGGIRARLR 
PIDADTIDIY ARAVFPAAFA AVNVIYWAAY AM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.